|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ATP5MD |
Gene summary |
Gene information | Gene symbol | ATP5MD | Gene ID | 84833 |
Gene name | ATP synthase membrane subunit DAPIT | |
Synonyms | DAPIT|HCVFTP2|MC5DN6|USMG5|bA792D24.4 | |
Cytomap | 10q24.33 | |
Type of gene | protein-coding | |
Description | ATP synthase membrane subunit DAPIT, mitochondrialDiabetes Associated Protein in Insulin-sensitive TissuesHCV F-transactivated protein 2diabetes-associated protein in insulin-sensitive tissuesup-regulated during skeletal muscle growth 5 homologup-reg | |
Modification date | 20200313 | |
UniProtAcc | Q96IX5, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for ATP5MD |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATP5MD |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_104560 | chr10 | 103392382:103392466:103394199:103394394:103395746:103395858 | 103394199:103394394 |
exon_skip_123126 | chr10 | 103392371:103392466:103394199:103394394:103395746:103395858 | 103394199:103394394 |
exon_skip_163474 | chr10 | 103392382:103392466:103394199:103394394:103395746:103396032 | 103394199:103394394 |
exon_skip_213234 | chr10 | 103389050:103389166:103392191:103392283:103392371:103392466 | 103392191:103392283 |
exon_skip_272465 | chr10 | 103392382:103392466:103394199:103394394:103396409:103396466 | 103394199:103394394 |
exon_skip_8816 | chr10 | 103392382:103392466:103395746:103396032:103396409:103396466 | 103395746:103396032 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ATP5MD |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000337003 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369825 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369815 | 103395746 | 103396032 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000337003 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369825 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369815 | 103395746 | 103396032 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000337003 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369825 | 103394199 | 103394394 | 3UTR-3UTR |
ENST00000369815 | 103395746 | 103396032 | 3UTR-3UTR |
ENST00000309579 | 103392191 | 103392283 | 5CDS-5UTR |
ENST00000337003 | 103392191 | 103392283 | 5CDS-5UTR |
ENST00000369811 | 103392191 | 103392283 | 5CDS-5UTR |
ENST00000369815 | 103392191 | 103392283 | 5CDS-5UTR |
ENST00000369825 | 103392191 | 103392283 | 5CDS-5UTR |
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Infer the effects of exon skipping event on protein functional features for ATP5MD |
p-ENSG00000173915_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATP5MD |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5581-5p | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-1307-5p | chr10:103394354-103394361 | 8mer-1a | chr10:103394341-103394361 | 195.00 | -52.88 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4297 | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4299 | chr10:103394254-103394261 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-8068 | chr10:103396024-103396031 | 8mer-1a | chr10:103396008-103396031 | 141.00 | -14.81 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-192-3p | chr10:103394325-103394332 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-194-3p | chr10:103395873-103395880 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260b | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6759-3p | chr10:103394249-103394256 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6760-3p | chr10:103394376-103394383 | 8mer-1a | chr10:103394363-103394383 | 154.00 | -17.82 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260a | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1538 | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4745-3p | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4747-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5196-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-663b | chr10:103395938-103395945 | 8mer-1a | chr10:103395924-103395945 | 160.00 | -33.99 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6501-5p | chr10:103394327-103394334 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5571-3p | chr10:103395858-103395865 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6890-3p | chr10:103394370-103394377 | 8mer-1a | chr10:103394361-103394381 | 166.00 | -22.88 |
Mayo | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4796-5p | chr10:103394230-103394237 | 8mer-1a | chr10:103394229-103394247 | 165.00 | -17.41 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-597-3p | chr10:103395788-103395795 | 8mer-1a | chr10:103395772-103395797 | 152.00 | -18.26 |
Mayo | ENST00000369815 | 103395746 | 103396032 | hsa-miR-384 | chr10:103395859-103395866 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5581-5p | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-1307-5p | chr10:103394354-103394361 | 8mer-1a | chr10:103394341-103394361 | 195.00 | -52.88 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4297 | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4299 | chr10:103394254-103394261 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-8068 | chr10:103396024-103396031 | 8mer-1a | chr10:103396008-103396031 | 141.00 | -14.81 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-192-3p | chr10:103394325-103394332 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-194-3p | chr10:103395873-103395880 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260b | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6759-3p | chr10:103394249-103394256 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6760-3p | chr10:103394376-103394383 | 8mer-1a | chr10:103394363-103394383 | 154.00 | -17.82 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260a | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1538 | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4745-3p | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4747-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5196-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-663b | chr10:103395938-103395945 | 8mer-1a | chr10:103395924-103395945 | 160.00 | -33.99 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6501-5p | chr10:103394327-103394334 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5571-3p | chr10:103395858-103395865 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6890-3p | chr10:103394370-103394377 | 8mer-1a | chr10:103394361-103394381 | 166.00 | -22.88 |
MSBB | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4796-5p | chr10:103394230-103394237 | 8mer-1a | chr10:103394229-103394247 | 165.00 | -17.41 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-597-3p | chr10:103395788-103395795 | 8mer-1a | chr10:103395772-103395797 | 152.00 | -18.26 |
MSBB | ENST00000369815 | 103395746 | 103396032 | hsa-miR-384 | chr10:103395859-103395866 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5581-5p | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-1307-5p | chr10:103394354-103394361 | 8mer-1a | chr10:103394341-103394361 | 195.00 | -52.88 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4297 | chr10:103395771-103395778 | 8mer-1a | chr10:103395762-103395778 | 148.00 | -19.92 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4299 | chr10:103394254-103394261 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-8068 | chr10:103396024-103396031 | 8mer-1a | chr10:103396008-103396031 | 141.00 | -14.81 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-192-3p | chr10:103394325-103394332 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-194-3p | chr10:103395873-103395880 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260b | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6759-3p | chr10:103394249-103394256 | 8mer-1a | chr10:103394244-103394261 | 147.00 | -18.17 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6760-3p | chr10:103394376-103394383 | 8mer-1a | chr10:103394363-103394383 | 154.00 | -17.82 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1260a | chr10:103396018-103396025 | 8mer-1a | chr10:103396005-103396025 | 142.00 | -16.74 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-1538 | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4745-3p | chr10:103395936-103395943 | 8mer-1a | chr10:103395922-103395943 | 167.00 | -29.51 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-4747-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5196-5p | chr10:103395869-103395876 | 8mer-1a | chr10:103395859-103395882 | 159.00 | -18.96 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-663b | chr10:103395938-103395945 | 8mer-1a | chr10:103395924-103395945 | 160.00 | -33.99 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6501-5p | chr10:103394327-103394334 | 8mer-1a | chr10:103394314-103394335 | 153.00 | -13.52 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-5571-3p | chr10:103395858-103395865 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-6890-3p | chr10:103394370-103394377 | 8mer-1a | chr10:103394361-103394381 | 166.00 | -22.88 |
ROSMAP | ENST00000369825 | 103394199 | 103394394 | hsa-miR-4796-5p | chr10:103394230-103394237 | 8mer-1a | chr10:103394229-103394247 | 165.00 | -17.41 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-597-3p | chr10:103395788-103395795 | 8mer-1a | chr10:103395772-103395797 | 152.00 | -18.26 |
ROSMAP | ENST00000369815 | 103395746 | 103396032 | hsa-miR-384 | chr10:103395859-103395866 | 8mer-1a | chr10:103395854-103395874 | 165.00 | -23.22 |
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SNVs in the skipped exons for ATP5MD |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ATP5MD |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP5MD |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ATP5MD |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | DAZAP1 | exon_skip_8816 | 6.010403e-01 | 5.472656e-17 |
CB | TARDBP | exon_skip_8816 | 6.380391e-01 | 1.492645e-19 |
CB | SAMD4A | exon_skip_8816 | 6.644391e-01 | 1.318359e-21 |
CB | CNOT4 | exon_skip_8816 | 6.562369e-01 | 6.027894e-21 |
CB | MBNL1 | exon_skip_8816 | 4.622975e-01 | 8.544811e-10 |
CB | TRNAU1AP | exon_skip_8816 | 4.827085e-01 | 1.167198e-10 |
CB | PCBP1 | exon_skip_8816 | 6.140453e-01 | 7.502098e-18 |
CB | PCBP4 | exon_skip_8816 | -4.591812e-01 | 1.144891e-09 |
CB | RC3H1 | exon_skip_8816 | 5.010455e-01 | 1.739087e-11 |
CB | FUBP1 | exon_skip_8816 | 5.682278e-01 | 5.627740e-15 |
CB | PTBP1 | exon_skip_8816 | 6.058795e-01 | 2.640372e-17 |
CB | CELF1 | exon_skip_8816 | 4.422435e-01 | 5.339215e-09 |
IFG | RBMS3 | exon_skip_163474 | -6.010929e-01 | 2.417445e-03 |
IFG | RBM4B | exon_skip_163474 | -5.827784e-01 | 3.519844e-03 |
IFG | PCBP1 | exon_skip_8816 | 4.322845e-01 | 2.159864e-02 |
IFG | PCBP2 | exon_skip_8816 | 4.311988e-01 | 2.196670e-02 |
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RelatedDrugs for ATP5MD |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ATP5MD |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |